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The KLHL40 c.1516A>C is a Chinese-specific founder mutation causing nemaline myopathy 8: Report of six patients with pre- and postnatal phenotypes.
Yeung KS, Yu FNY, Fung CW, Wong S, Lee HHC, Fung STH, Fung GPG, Leung KY, Chung WH, Lee YT, Ng VKS, Yu MHC, Fung JLF, Tsang MHY, Chan KYK, Chan SHS, Kan ASY, Chung BHY. Yeung KS, et al. Among authors: chan shs, chan kyk. Mol Genet Genomic Med. 2020 Jul;8(7):e1229. doi: 10.1002/mgg3.1229. Epub 2020 Apr 30. Mol Genet Genomic Med. 2020. PMID: 32352246 Free PMC article.
Cytoplasmic body pathology in severe ACTA1-related myopathy in the absence of typical nemaline rods.
Donkervoort S, Chan SHS, Hayes LH, Bradley N, Nguyen D, Leach ME, Mohassel P, Hu Y, Thangarajh M, Bharucha-Goebel D, Kan A, Ho RSL, Reyes CA, Nance J, Moore SA, Foley AR, Bönnemann CG. Donkervoort S, et al. Among authors: chan shs. Neuromuscul Disord. 2017 Jun;27(6):531-536. doi: 10.1016/j.nmd.2017.02.012. Epub 2017 Mar 2. Neuromuscul Disord. 2017. PMID: 28416349 Free PMC article.
Diagnostic value of whole-exome sequencing in Chinese pediatric-onset neuromuscular patients.
Tsang MHY, Chiu ATG, Kwong BMH, Liang R, Yu MHC, Yeung KS, Ho WHL, Mak CCY, Leung GKC, Pei SLC, Fung JLF, Wong VCN, Muntoni F, Chung BHY, Chan SHS. Tsang MHY, et al. Among authors: chan shs. Mol Genet Genomic Med. 2020 May;8(5):e1205. doi: 10.1002/mgg3.1205. Epub 2020 Mar 10. Mol Genet Genomic Med. 2020. PMID: 32154989 Free PMC article.
Infantile to late adulthood onset facioscapulohumeral dystrophy type 1: a case series.
Leung WY, Luk HM, Vardhanabhuti V, Gao Y, Hui KF, Lau WY, Young TPH, Li JTC, Fung ELW, Chiu ATG, Lo IFM, Chung BHY, Cheung YF, Chan SHS. Leung WY, et al. Among authors: chan shs. Hong Kong Med J. 2021 Dec;27(6):444-449. doi: 10.12809/hkmj209001. Hong Kong Med J. 2021. PMID: 34949732 Free article. No abstract available.
Congenital muscular dystrophies in China.
Ge L, Zhang C, Wang Z, Chan SHS, Zhu W, Han C, Zhang X, Zheng H, Wu L, Jin B, Shan J, Mao B, Zhong J, Peng X, Cheng Y, Hu J, Sun Y, Lu J, Hua Y, Zhu S, Wei C, Wang S, Jiao H, Yang H, Fu X, Fan Y, Chang X, Wang S, Bao X, Zhang Y, Wang J, Wu Y, Jiang Y, Yuan Y, Rutkowski A, Bönnemann CG, Wei W, Wu X, Xiong H. Ge L, et al. Among authors: chan shs. Clin Genet. 2019 Sep;96(3):207-215. doi: 10.1111/cge.13560. Epub 2019 Jun 6. Clin Genet. 2019. PMID: 31066047
61 results